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Journal Abstract Search

343 related items for PubMed ID: 20106822

  • 1. Genetic disorders in complement (regulating) genes in patients with atypical haemolytic uraemic syndrome (aHUS).
    Westra D, Volokhina E, van der Heijden E, Vos A, Huigen M, Jansen J, van Kaauwen E, van der Velden T, van de Kar N, van den Heuvel L.
    Nephrol Dial Transplant; 2010 Jul; 25(7):2195-202. PubMed ID: 20106822
    [Abstract] [Full Text] [Related]

  • 2. Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome.
    Sellier-Leclerc AL, Fremeaux-Bacchi V, Dragon-Durey MA, Macher MA, Niaudet P, Guest G, Boudailliez B, Bouissou F, Deschenes G, Gie S, Tsimaratos M, Fischbach M, Morin D, Nivet H, Alberti C, Loirat C, French Society of Pediatric Nephrology.
    J Am Soc Nephrol; 2007 Aug; 18(8):2392-400. PubMed ID: 17599974
    [Abstract] [Full Text] [Related]

  • 3. The decay accelerating factor mutation I197V found in hemolytic uraemic syndrome does not impair complement regulation.
    Kavanagh D, Burgess R, Spitzer D, Richards A, Diaz-Torres ML, Goodship JA, Hourcade DE, Atkinson JP, Goodship TH.
    Mol Immunol; 2007 May; 44(12):3162-7. PubMed ID: 17368771
    [Abstract] [Full Text] [Related]

  • 4. The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models.
    Saunders RE, Abarrategui-Garrido C, Frémeaux-Bacchi V, Goicoechea de Jorge E, Goodship TH, López Trascasa M, Noris M, Ponce Castro IM, Remuzzi G, Rodríguez de Córdoba S, Sánchez-Corral P, Skerka C, Zipfel PF, Perkins SJ.
    Hum Mutat; 2007 Mar; 28(3):222-34. PubMed ID: 17089378
    [Abstract] [Full Text] [Related]

  • 5. The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts.
    Fremeaux-Bacchi V, Kemp EJ, Goodship JA, Dragon-Durey MA, Strain L, Loirat C, Deng HW, Goodship TH.
    J Med Genet; 2005 Nov; 42(11):852-6. PubMed ID: 15784724
    [Abstract] [Full Text] [Related]

  • 6. Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome.
    Fremeaux-Bacchi V, Moulton EA, Kavanagh D, Dragon-Durey MA, Blouin J, Caudy A, Arzouk N, Cleper R, Francois M, Guest G, Pourrat J, Seligman R, Fridman WH, Loirat C, Atkinson JP.
    J Am Soc Nephrol; 2006 Jul; 17(7):2017-25. PubMed ID: 16762990
    [Abstract] [Full Text] [Related]

  • 7. Atypical haemolytic uraemic syndrome.
    Kavanagh D, Goodship TH, Richards A.
    Br Med Bull; 2006 Jul; 77-78():5-22. PubMed ID: 16968692
    [Abstract] [Full Text] [Related]

  • 8. Implications of the initial mutations in membrane cofactor protein (MCP; CD46) leading to atypical hemolytic uremic syndrome.
    Richards A, Kathryn Liszewski M, Kavanagh D, Fang CJ, Moulton E, Fremeaux-Bacchi V, Remuzzi G, Noris M, Goodship TH, Atkinson JP.
    Mol Immunol; 2007 Jan; 44(1-3):111-22. PubMed ID: 16882452
    [Abstract] [Full Text] [Related]

  • 9. [Atypical hemolytic-uremic syndrome related to abnormalities within the complement system].
    Frémeaux-Bacchi V, Fakhouri F, Roumenina L, Dragon-Durey MA, Loirat C.
    Rev Med Interne; 2011 Apr; 32(4):232-40. PubMed ID: 21376430
    [Abstract] [Full Text] [Related]

  • 10. The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome.
    Dragon-Durey MA, Blanc C, Marliot F, Loirat C, Blouin J, Sautes-Fridman C, Fridman WH, Frémeaux-Bacchi V.
    J Med Genet; 2009 Jul; 46(7):447-50. PubMed ID: 19435718
    [Abstract] [Full Text] [Related]

  • 11. Atypical hemolytic uremic syndrome: update on the complement system and what is new.
    Hirt-Minkowski P, Dickenmann M, Schifferli JA.
    Nephron Clin Pract; 2010 Jul; 114(4):c219-35. PubMed ID: 20090363
    [Abstract] [Full Text] [Related]

  • 12. Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome.
    Sullivan M, Erlic Z, Hoffmann MM, Arbeiter K, Patzer L, Budde K, Hoppe B, Zeier M, Lhotta K, Rybicki LA, Bock A, Berisha G, Neumann HP.
    Ann Hum Genet; 2010 Jan; 74(1):17-26. PubMed ID: 20059470
    [Abstract] [Full Text] [Related]

  • 13. Atypical hemolytic uremic syndrome associated with complement factor H autoantibodies and CFHR1/CFHR3 deficiency.
    Lee BH, Kwak SH, Shin JI, Lee SH, Choi HJ, Kang HG, Ha IS, Lee JS, Dragon-Durey MA, Choi Y, Cheong HI.
    Pediatr Res; 2009 Sep; 66(3):336-40. PubMed ID: 19531976
    [Abstract] [Full Text] [Related]

  • 14. Functional analyses indicate a pathogenic role of factor H autoantibodies in atypical haemolytic uraemic syndrome.
    Strobel S, Hoyer PF, Mache CJ, Sulyok E, Liu WS, Richter H, Oppermann M, Zipfel PF, Józsi M.
    Nephrol Dial Transplant; 2010 Jan; 25(1):136-44. PubMed ID: 19666655
    [Abstract] [Full Text] [Related]

  • 15. Atypical hemolytic uremic syndrome associated with mutations in complement regulator genes.
    Le Quintrec M, Roumenina L, Noris M, Frémeaux-Bacchi V.
    Semin Thromb Hemost; 2010 Sep; 36(6):641-52. PubMed ID: 20865641
    [Abstract] [Full Text] [Related]

  • 16. Does complement factor B have a role in the pathogenesis of atypical HUS?
    Kavanagh D, Kemp EJ, Richards A, Burgess RM, Mayland E, Goodship JA, Goodship TH.
    Mol Immunol; 2006 Mar; 43(7):856-9. PubMed ID: 16061287
    [Abstract] [Full Text] [Related]

  • 17. Insights into hemolytic uremic syndrome: segregation of three independent predisposition factors in a large, multiple affected pedigree.
    Esparza-Gordillo J, Jorge EG, Garrido CA, Carreras L, López-Trascasa M, Sánchez-Corral P, de Córdoba SR.
    Mol Immunol; 2006 Apr; 43(11):1769-75. PubMed ID: 16386793
    [Abstract] [Full Text] [Related]

  • 18. Autoantibodies in haemolytic uraemic syndrome (HUS).
    Skerka C, Józsi M, Zipfel PF, Dragon-Durey MA, Fremeaux-Bacchi V.
    Thromb Haemost; 2009 Feb; 101(2):227-32. PubMed ID: 19190803
    [Abstract] [Full Text] [Related]

  • 19. Age-related penetrance of hereditary atypical hemolytic uremic syndrome.
    Sullivan M, Rybicki LA, Winter A, Hoffmann MM, Reiermann S, Linke H, Arbeiter K, Patzer L, Budde K, Hoppe B, Zeier M, Lhotta K, Bock A, Wiech T, Gaspert A, Fehr T, Woznowski M, Berisha G, Malinoc A, Goek ON, Eng C, Neumann HP.
    Ann Hum Genet; 2011 Nov; 75(6):639-47. PubMed ID: 21906045
    [Abstract] [Full Text] [Related]

  • 20. Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype.
    Bresin E, Rurali E, Caprioli J, Sanchez-Corral P, Fremeaux-Bacchi V, Rodriguez de Cordoba S, Pinto S, Goodship TH, Alberti M, Ribes D, Valoti E, Remuzzi G, Noris M, European Working Party on Complement Genetics in Renal Diseases.
    J Am Soc Nephrol; 2013 Feb; 24(3):475-86. PubMed ID: 23431077
    [Abstract] [Full Text] [Related]

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